GLRX5 Gene Summary [Human]
This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron-sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia. [provided by RefSeq, May 2010]
Details
| Type | Processed Transcript |
| Official Symbol | GLRX5 |
| Official Name | glutaredoxin 5 [Source:HGNC Symbol;Acc:HGNC:20134] |
| Ensembl ID | ENSG00000182512 |
| Bio databases IDs | |
| Aliases | glutaredoxin 5 |
| Synonyms | C14orf87, FLB4739, glutaredoxin 5, GRX5, PR01238, PRO1238, PRSA, RGD1308383, SIDBA3, SPAHGC |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GLRX5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- renal clear cell cancer
- renal clear cell adenocarcinoma
- asthma
- squamous-cell carcinoma
- squamous cell cancer
- pyridoxine-refractory sideroblastic anemia type 3
- acute lung injury
- ulcerative colitis
- Crohn disease
- thyroid cancer
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- mitochondrial matrix
- perikaryon
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GLRX5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular iron ion homeostasis
- [2Fe-2S] cluster assembly
- hemopoiesis
- cell redox homeostasis
- iron-sulfur cluster assembly
Cellular Component
Where in the cell the gene product is active
- dendrite
- mitochondrial matrix
- mitochondrion
- neuronal cell body
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- 2 iron, 2 sulfur cluster binding